Incidental Mutation 'R6571:Trib2'
| ID |
526244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trib2
|
| Ensembl Gene |
ENSMUSG00000020601 |
| Gene Name |
tribbles pseudokinase 2 |
| Synonyms |
TRB2 |
| MMRRC Submission |
044695-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.512)
|
| Stock # |
R6571 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
15841728-15866923 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15844060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 194
(E194G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020922]
[ENSMUST00000221518]
|
| AlphaFold |
Q8K4K3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020922
AA Change: E194G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020922
Gene: ENSMUSG00000020601
AA Change: E194G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
72 |
308 |
1.2e-36 |
PFAM |
|
Pfam:Pkinase_Tyr
|
98 |
305 |
4.6e-19 |
PFAM |
|
Pfam:Kinase-like
|
111 |
296 |
5.7e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221518
AA Change: E58G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
94% (31/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit nitrituria. Female homozygotes display decreased circulating triglyceride levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,216,390 (GRCm39) |
I161V |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,065,187 (GRCm39) |
F24S |
probably benign |
Het |
| Bche |
G |
T |
3: 73,608,824 (GRCm39) |
Q201K |
probably benign |
Het |
| Camsap1 |
A |
T |
2: 25,829,512 (GRCm39) |
D757E |
possibly damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Dab2ip |
T |
C |
2: 35,602,902 (GRCm39) |
S399P |
probably damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,789,668 (GRCm39) |
C481S |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,665,349 (GRCm39) |
T923S |
probably damaging |
Het |
| Gm11437 |
T |
C |
11: 84,047,038 (GRCm39) |
D147G |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,937,999 (GRCm39) |
E427G |
probably damaging |
Het |
| Gm6401 |
T |
A |
14: 41,787,452 (GRCm39) |
I125F |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,491,189 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
T |
C |
1: 37,426,839 (GRCm39) |
M600T |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,458,800 (GRCm39) |
E374G |
probably damaging |
Het |
| Lrba |
A |
C |
3: 86,267,367 (GRCm39) |
S1686R |
probably damaging |
Het |
| Map3k4 |
T |
C |
17: 12,461,579 (GRCm39) |
D1200G |
possibly damaging |
Het |
| Mmp25 |
T |
C |
17: 23,858,870 (GRCm39) |
H227R |
probably benign |
Het |
| Or6c38 |
A |
C |
10: 128,928,990 (GRCm39) |
N284K |
probably damaging |
Het |
| Papss2 |
G |
A |
19: 32,629,342 (GRCm39) |
|
probably null |
Het |
| Rasal2 |
T |
A |
1: 156,988,749 (GRCm39) |
R718S |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,620,707 (GRCm39) |
D394G |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,379,413 (GRCm39) |
D438E |
probably damaging |
Het |
| S1pr1 |
A |
G |
3: 115,505,452 (GRCm39) |
S381P |
possibly damaging |
Het |
| Septin8 |
A |
G |
11: 53,427,990 (GRCm39) |
E268G |
probably damaging |
Het |
| Slc6a21 |
A |
G |
7: 44,930,303 (GRCm39) |
K234R |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,783,737 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,433,752 (GRCm39) |
|
probably benign |
Het |
| Spag5 |
G |
T |
11: 78,212,095 (GRCm39) |
R1041I |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,865,269 (GRCm39) |
M806L |
probably benign |
Het |
| Tnfrsf18 |
T |
A |
4: 156,112,776 (GRCm39) |
L154* |
probably null |
Het |
| Vmn2r33 |
A |
G |
7: 7,566,668 (GRCm39) |
V148A |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,578,298 (GRCm39) |
R405W |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,310 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Trib2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Trib2
|
APN |
12 |
15,843,634 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02248:Trib2
|
APN |
12 |
15,843,967 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03145:Trib2
|
APN |
12 |
15,859,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0008:Trib2
|
UTSW |
12 |
15,859,930 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0008:Trib2
|
UTSW |
12 |
15,859,930 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0118:Trib2
|
UTSW |
12 |
15,843,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Trib2
|
UTSW |
12 |
15,843,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Trib2
|
UTSW |
12 |
15,844,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1928:Trib2
|
UTSW |
12 |
15,865,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2153:Trib2
|
UTSW |
12 |
15,843,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Trib2
|
UTSW |
12 |
15,843,795 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6874:Trib2
|
UTSW |
12 |
15,865,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Trib2
|
UTSW |
12 |
15,843,640 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6988:Trib2
|
UTSW |
12 |
15,865,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8519:Trib2
|
UTSW |
12 |
15,865,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Trib2
|
UTSW |
12 |
15,865,413 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9541:Trib2
|
UTSW |
12 |
15,866,827 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAATGTTGAACTGGCCCC -3'
(R):5'- AGTGACATCCAGCTTGTTACAG -3'
Sequencing Primer
(F):5'- CCCTGCGGATCTTACTGAAAAGAG -3'
(R):5'- ACATCCAGCTTGTTACAGGGATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation